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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hyperglycemia
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Accession:DOID:4195 term browser browse the term
Definition:Abnormally high BLOOD GLUCOSE level.
Synonyms:exact_synonym: Hyperglycemias;   Postprandial Hyperglycemia;   Postprandial Hyperglycemias
 primary_id: MESH:D006943
 xref: ICD10CM:R73.9;   MONDO:0002909;   NCI:C26797
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hyperglycemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase ISO protein:decreased expression:mesangial cell RGD PMID:12472193 RGD:1624290 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing EXP CTD Direct Evidence: therapeutic CTD PMID:29991592 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO mRNA:decreased expression:skeletal muscle cell RGD PMID:16326833 RGD:1625765 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G ADM adrenomedullin EXP CTD Direct Evidence: therapeutic CTD PMID:33491863 NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397 		JBrowse link
G ADRB1 adrenoceptor beta 1 ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:heart RGD PMID:21831645 RGD:6893641 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G AGER advanced glycosylation end-product specific receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24036142 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO protein:increased expression:brain, liver RGD PMID:17211565 RGD:1626079 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:37769864 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344 		JBrowse link
G AVP arginine vasopressin ISO RGD PMID:16497839 RGD:1601303 NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO RGD PMID:11735114 RGD:734670 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CASP8 caspase 8 ISO RGD PMID:19194987 RGD:2311428 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CBL Cbl proto-oncogene ISO mRNA:increased expression:islet of Langerhans (rat) RGD PMID:16644676 RGD:11576321 NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CCL11 C-C motif chemokine ligand 11 treatment IEP
IDA		 associated with Diabetes Mellitus, Type 1;protein:increased expression:urine RGD PMID:20841614 PMID:23893332 RGD:7248408, RGD:7248413 NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CD163 CD163 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CD40 CD40 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CNR2 cannabinoid receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:32365865 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362 		JBrowse link
G CNTF ciliary neurotrophic factor ISO protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes RGD PMID:1571789 RGD:1626119 NCBI chr11:58,622,665...58,625,733
Ensembl chr11:58,622,665...58,625,733 		JBrowse link
G COL3A1 collagen type III alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:ovary (rat) RGD PMID:18353182 RGD:4785271 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 IAGP associated with Diabetes Mellitus, Non-Insulin-Dependent; Diabetic Nephropathies; DNA:polymorphisms:polymorphisms:cds:R144C, I359L (human) RGD PMID:17597710 RGD:2307149 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091 		JBrowse link
G DRD1 dopamine receptor D1 ISO associated with Diabetes Mellitus, Experimental; protein:decreased expression:renal cortex (rat) RGD PMID:20339101 RGD:7248446 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:17914354 RGD:10395377 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G F2 coagulation factor II, thrombin IEP associated with Myocardial Infarction RGD PMID:18487475 RGD:2313851 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F7 coagulation factor VII IEP associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:3240844 RGD:2312413 NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685 		JBrowse link
G FBN1 fibrillin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20836762 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FCGR3B Fc gamma receptor IIIb EXP CTD Direct Evidence: marker/mechanism CTD PMID:29035695 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G GCG glucagon EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:3019152 PMID:18669601 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404 		JBrowse link
G GCK glucokinase treatment ISO
EXP		 associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18056790 PMID:21937665 RGD:7488968 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GIP gastric inhibitory polypeptide IEP associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) RGD PMID:19174495 RGD:2312590 NCBI chr17:48,958,554...48,968,596
Ensembl chr17:48,958,554...48,968,596 		JBrowse link
G GIPR gastric inhibitory polypeptide receptor ISO protein:decreased expression:pancreatic islet (rat) RGD PMID:17505054 PMID:10611300 RGD:2312603, RGD:737713 NCBI chr19:45,668,221...45,683,722
Ensembl chr19:45,668,221...45,683,722 		JBrowse link
G GLP1R glucagon like peptide 1 receptor ISO RGD PMID:15879053 RGD:1624350 NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303 		JBrowse link
G GPR55 G protein-coupled receptor 55 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30148676 NCBI chr 2:230,907,328...230,961,201
Ensembl chr 2:230,907,318...230,961,066 		JBrowse link
G GPX1 glutathione peroxidase 1 treatment IMP
EXP		 associated with Diabetes Mellitus, Type 2
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15184668 PMID:19819955 RGD:11353779 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO associated with Diabetes Mellitus, Experimental;protein:altered localization RGD PMID:16478977 RGD:1625789 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G HCRT hypocretin neuropeptide precursor treatment ISO associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452 		JBrowse link
G HCRTR2 hypocretin receptor 2 treatment ISO associated with Obesity RGD PMID:12217430 RGD:1358430 NCBI chr 6:55,106,469...55,284,713
Ensembl chr 6:55,106,460...55,282,617 		JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23512162 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231 		JBrowse link
G HNF1A HNF1 homeobox A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29753610 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HP haptoglobin IDA associated with Diabetes;protein:increased glycation:plasma RGD PMID:3690840 RGD:1626355 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G HRH3 histamine receptor H3 ISO RGD PMID:11684344 RGD:1626408 NCBI chr20:62,214,960...62,220,278
Ensembl chr20:62,214,960...62,220,278 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14697232 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression RGD PMID:15961182 RGD:1624212 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IEP protein:decreased expression:endothelial cell RGD PMID:15056491 RGD:1624255 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO RGD PMID:9128844 RGD:1624376 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental; protein:increased expression:cerebral cortex, pyramidal layer (rat) RGD PMID:20495289 RGD:4145407 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL1A interleukin 1 alpha IEP associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma RGD PMID:18211631 RGD:2311062 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta ISO associated with Diabetes Mellitus, Experimental RGD PMID:17047293 RGD:1626631 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IEP associated with Diabetes Mellitus, Type 1; protein:decreased expression:urine (human) RGD PMID:12679866 RGD:6907426 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL6 interleukin 6 IAGP
EXP
IEP		 fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)		 CTD
RGD		 PMID:29035695 PMID:18752089 PMID:18608123 RGD:2307290, RGD:2307291 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G IL7 interleukin 7 EXP CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523 		JBrowse link
G INS insulin EXP
ISO		 CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8660453 PMID:9861226 PMID:18056790 PMID:29211853 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough ISO CTD Direct Evidence: therapeutic CTD PMID:26887929 PMID:28422052 PMID:29682576 PMID:32554039 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G INSR insulin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18056790 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IRS2 insulin receptor substrate 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20028942 PMID:25808216 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583 		JBrowse link
G ITGAM integrin subunit alpha M EXP
IEP		 CTD Direct Evidence: marker/mechanism
associated with type 2 diabetes mellitus;protein:increased expression:granulocyte, monocyte (human)		 CTD
RGD		 PMID:29035695 PMID:23686079 RGD:329901658 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGAV integrin subunit alpha V IEP mRNA:increased expression:blood vessel endothelial cell RGD PMID:11848444 RGD:1627644 NCBI chr 2:186,590,056...186,680,901
Ensembl chr 2:186,590,010...186,680,901 		JBrowse link
G LDHA lactate dehydrogenase A ISO mRNA:increased expression:beta cell RGD PMID:12438314 RGD:1600277 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425 		JBrowse link
G LEP leptin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19716478 PMID:21561152 PMID:29650965 PMID:31313498 PMID:31483951 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:3519326 PMID:15093691 PMID:17065336 PMID:19682441 PMID:20567778 More... RGD:12911216 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G MGRN1 mahogunin ring finger 1 ISO RGD PMID:16638826 RGD:1641947 NCBI chr16:4,624,826...4,690,972
Ensembl chr16:4,616,493...4,690,974 		JBrowse link
G MIR155 microRNA 155 ISO RGD PMID:27711113 RGD:25671464 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO associated with Brain Ischemia RGD PMID:17272778 RGD:1642027 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP DNA:mutations:promoter, exon:-1972G>A, p.A322N (human) RGD PMID:18811724 RGD:2313477 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NEUROG3 neurogenin 3 ISO associated with Diabetes Mellitus, Experimental RGD PMID:17239820 RGD:1642077 NCBI chr10:69,571,485...69,573,422
Ensembl chr10:69,571,698...69,573,422 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20086057 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11696579 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:23458895 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit EXP CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 susceptibility ISO associated with Diabetes Mellitus, Experimental RGD PMID:10077636 RGD:1300264 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PAX4 paired box 4 IAGP ClinVar Annotator: match by term: Hyperglycemia ClinVar PMID:15509590 PMID:25741868 PMID:28492532 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:16271515 RGD:2311645 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO associated with Diabetes Mellitus, Experimental; protein, mRNA:altered expression:pancreatic islet (rat)
associated with Diabetes Mellitus, Experimental; protein:increased expression:hepatocyte (rat)		 RGD PMID:7883951 PMID:17131142 RGD:2308919, RGD:2308899 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IMP
ISO		 associated with Diabetes Mellitus, Insulin-Dependent; (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:decreased expression:pancreatic islet (rat)
associated with Diabetes Mellitus, Experimental; (mouse)
associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:stem cell (mouse)
mRNA:decreased expression:pancreatic islet (rat)		 RGD PMID:17131142 PMID:10512364 PMID:16983179 PMID:19245309 PMID:12438314 RGD:2308899, RGD:2311207, RGD:2311206, RGD:2311204, RGD:1600277 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PKLR pyruvate kinase L/R ISO associated with Diabetes Mellitus, Type 2;mRNA, protein:increased expression:liver RGD PMID:8605225 RGD:1625587 NCBI chr 1:155,289,293...155,308,654
Ensembl chr 1:155,289,293...155,301,438 		JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO protein:increased activity:vascular associated smooth muscle cell RGD PMID:7635966 RGD:1642443 NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981 		JBrowse link
G PON1 paraoxonase 1 treatment IDA associated with Diabetes Mellitus, Type 2 RGD PMID:23267397 RGD:8547670 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO associated with Obesity
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart left ventricle, myocardium (rat)		 RGD PMID:23499865 PMID:19367030 PMID:22922125 RGD:7241854, RGD:10059674, RGD:7242061 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRDX4 peroxiredoxin 4 EXP CTD Direct Evidence: therapeutic CTD PMID:20446767 NCBI chr  X:23,667,493...23,686,397
Ensembl chr  X:23,664,262...23,686,397 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29367455 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKCB protein kinase C beta ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:17443133 PMID:15616014 RGD:1625514 NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611 		JBrowse link
G PRKCZ protein kinase C zeta ISO RGD PMID:12960081 RGD:1642528 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRNP prion protein (Kanno blood group) ISO RGD PMID:17146448 RGD:1599950 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PTCH1 patched 1 IEP associated with Pancreatic Neoplasms RGD PMID:16804411 RGD:2324911 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14514642 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G SDC1 syndecan 1 IEP protein:decreased expression:blood vessel endothelial cell RGD PMID:16810465 RGD:1643127 NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433 		JBrowse link
G SHC1 SHC adaptor protein 1 susceptibility ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:17360381 RGD:1643173 NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18056790 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SOD1 superoxide dismutase 1 treatment IMP associated with Ischemic Attack, Transient; human gene in a rat model RGD PMID:17272778 RGD:1642027 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SP1 Sp1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11696579 NCBI chr12:53,380,176...53,416,446
Ensembl chr12:53,380,176...53,416,446 		JBrowse link
G TF transferrin susceptibility IAGP RGD PMID:16936158 RGD:1601518 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta IEP protein:increased expression:serum RGD PMID:7956715 RGD:1624160 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G ZC3H10 zinc finger CCCH-type containing 10 EXP CTD Direct Evidence: therapeutic CTD PMID:31775033 NCBI chr12:56,118,266...56,127,514
Ensembl chr12:56,118,260...56,127,514 		JBrowse link
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRX5 glutaredoxin 5 IAGP ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia ClinVar
OMIM		 PMID:24334290 PMID:25741868 PMID:28492532 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
glucose intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOR2 adiponectin receptor 2 treatment ISO RGD PMID:23797890 RGD:25330096 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674 		JBrowse link
G AGT angiotensinogen EXP CTD Direct Evidence: therapeutic CTD PMID:26704350 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11564974 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G AHR aryl hydrocarbon receptor EXP CTD Direct Evidence: therapeutic CTD PMID:31306034 NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152 		JBrowse link
G APOC3 apolipoprotein C3 IAGP RGD PMID:11959336 RGD:1578441 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 IEP protein:increased secretion:serum (human) RGD PMID:16306328 RGD:2307103 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:14640889 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:26563389 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP CTD Direct Evidence: therapeutic CTD PMID:27036855 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902 		JBrowse link
G DUSP1 dual specificity phosphatase 1 resistance ISO RGD PMID:16814733 RGD:2298673 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195 		JBrowse link
G ECH1 enoyl-CoA hydratase 1 treatment ISO RGD PMID:31961704 RGD:21408561 NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841 		JBrowse link
G FRK fyn related Src family tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17179392 NCBI chr 6:115,931,149...116,100,725
Ensembl chr 6:115,931,149...116,060,891 		JBrowse link
G GIPR gastric inhibitory polypeptide receptor ISO RGD PMID:10611300 RGD:737713 NCBI chr19:45,668,221...45,683,722
Ensembl chr19:45,668,221...45,683,722 		JBrowse link
G GLP1R glucagon like peptide 1 receptor susceptibility ISO RGD PMID:8898756 RGD:1624349 NCBI chr 6:39,048,781...39,091,303
Ensembl chr 6:39,048,781...39,091,303 		JBrowse link
G GPX4 glutathione peroxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26042203 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP associated with Diabetes Mellitus RGD PMID:15602651 RGD:2301815 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HNF1A HNF1 homeobox A susceptibility IAGP DNA:polymorphism: :p.A98V RGD PMID:15277395 RGD:1601481 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 disease_progression IDA associated with Cystic Fibrosis; RGD PMID:11591125 RGD:12910474 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta EXP CTD Direct Evidence: therapeutic CTD PMID:31095431 NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460 		JBrowse link
G IL7 interleukin 7 EXP CTD Direct Evidence: therapeutic CTD PMID:20376352 NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523 		JBrowse link
G INS insulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21779873 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10949030 PMID:10949030 RGD:1302523 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO associated with Alzheimer Disease RGD PMID:23223021 RGD:10403052 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 EXP CTD Direct Evidence: therapeutic CTD PMID:29259128 NCBI chr 1:110,401,253...110,407,924
Ensembl chr 1:110,401,249...110,407,942 		JBrowse link
G LEP leptin ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21315688 PMID:24150608 PMID:29650965 PMID:22948215 RGD:12904911 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19452630 PMID:25367288 PMID:28611668 PMID:29988851 PMID:27465994 More... RGD:12911217, RGD:12911216 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G METRNL meteorin like, glial cell differentiation regulator EXP CTD Direct Evidence: therapeutic CTD PMID:30213948 NCBI chr17:83,079,609...83,095,122
Ensembl chr17:83,079,609...83,095,122 		JBrowse link
G MIR125A microRNA 125a ISO RGD PMID:31988048 RGD:21403676 NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339 		JBrowse link
G MIR34A microRNA 34a EXP CTD Direct Evidence: marker/mechanism CTD PMID:23834033 NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18273840 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Glucose intolerance ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G NEIL1 nei like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21285402 NCBI chr15:75,347,039...75,357,115
Ensembl chr15:75,346,955...75,357,115 		JBrowse link
G NEUROD1 neuronal differentiation 1 susceptibility IAGP DNA:polymorphism: :p.A45T (human) RGD PMID:15277395 RGD:1601481 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NEUROG3 neurogenin 3 susceptibility IAGP DNA:polymorphism:cds:p.S199F RGD PMID:15277395 RGD:1601481 NCBI chr10:69,571,485...69,573,422
Ensembl chr10:69,571,698...69,573,422 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NONO non-POU domain containing octamer binding EXP CTD Direct Evidence: marker/mechanism CTD PMID:29358041 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G NR5A2 nuclear receptor subfamily 5 group A member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29515023 NCBI chr 1:200,027,710...200,177,415
Ensembl chr 1:200,027,614...200,177,420 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit EXP CTD Direct Evidence: therapeutic CTD PMID:33812996 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727 		JBrowse link
G PAX6 paired box 6 IAGP associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human) RGD PMID:19034419 RGD:2308929 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO associated with Hyperinsulinemia, Aniridia; mRNA, protein:decreased expression:pancreatic islet (mouse) RGD PMID:19034419 RGD:2308929 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 EXP CTD Direct Evidence: therapeutic CTD PMID:33567340 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLAC8 placenta associated 8 ISO associated with obesity RGD PMID:26296322 RGD:10755343 NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075 		JBrowse link
G PLEKHS1 pleckstrin homology domain containing S1 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:113,751,682...113,783,429
Ensembl chr10:113,751,262...113,783,429 		JBrowse link
G PON1 paraoxonase 1 IAGP DNA:SNP:CDS:amino acid L55M, LL genotype RGD PMID:11889198 RGD:1642628 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO mRNA:decreased expression:quadriceps muscle (mouse) RGD PMID:19158402 RGD:7242049 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRDX3 peroxiredoxin 3 ISO associated with obesity; RGD PMID:27523322 RGD:11532750 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G PRDX4 peroxiredoxin 4 EXP CTD Direct Evidence: therapeutic CTD PMID:20446767 NCBI chr  X:23,667,493...23,686,397
Ensembl chr  X:23,664,262...23,686,397 		JBrowse link
G PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19934007 NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374 		JBrowse link
G PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19934007 PMID:12511592 RGD:1302556 NCBI chr 1:56,645,314...56,715,335
Ensembl chr 1:56,645,314...56,715,335 		JBrowse link
G RAPGEF3 Rap guanine nucleotide exchange factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27381457 NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22355640 NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662 		JBrowse link
G SIRT1 sirtuin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:21321189 NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22872759 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC27A1 solute carrier family 27 member 1 ISO RGD PMID:15281014 RGD:1642794 NCBI chr19:17,468,767...17,506,168
Ensembl chr19:17,468,769...17,506,168 		JBrowse link
G SQSTM1 sequestosome 1 EXP CTD Direct Evidence: therapeutic CTD PMID:33933676 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein treatment ISO RGD PMID:29976929 RGD:150519890 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G XBP1 X-box binding protein 1 EXP CTD Direct Evidence: therapeutic CTD PMID:27325692 NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10529
      disease of metabolism 10529
        inherited metabolic disorder 7858
          carbohydrate metabolic disorder 3614
            glucose metabolism disease 1995
              hyperglycemia 135
                Childhood-Onset Spasticity with Hyperglycinemia 1
                glucose intolerance 58
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36466
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33608
        genetic disease 33189
          inherited metabolic disorder 7858
            carbohydrate metabolic disorder 3614
              glucose metabolism disease 1995
                hyperglycemia 135
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  glucose intolerance 58
paths to the root